Arama Sonuçları - Guillem Pintos‐Morell

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  1. 1
    Fabry disease in children and the effects of enzyme replacement treatment

    Fabry disease in children and the effects of enzyme replacement treatment Yazar: Guillem Pintos‐Morell, Michael Beck

    Baskı/Yayın Bilgisi 2009
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  2. 2
    Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

    Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events Yazar: Michael Beck, Derralynn Hughes, Christoph Kampmann, Guillem Pintos‐Morell, Uma Ramaswami, Michael L. West, Roberto Giugliani

    Baskı/Yayın Bilgisi 2017
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  3. 3
    Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

    Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events Yazar: Michael Beck, Derralynn Hughes, Christoph Kampmann, Svetlana Bizjajeva, Guillem Pintos‐Morell, Uma Ramaswami, Michael E. West, Roberto Giugliani

    Baskı/Yayın Bilgisi 2016
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  4. 4
    <p>Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age</p>

    <p>Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Ag... Yazar: Rossella Parini, Guillem Pintos‐Morell, Julia B. Hennermann, Ting‐Rong Hsu, Nesrin Karabul, Vasiliki Kalampoki, Andrey Gurevich, Uma Ramaswami

    Baskı/Yayın Bilgisi 2020
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  5. 5
    Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases

    Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases Yazar: Giovanni Lerussi, Verónica Villagrasa-Araya, Marc Moltó‐Abad, Mireia del Toro, Guillem Pintos‐Morell, Joaquin Seras‐Franzoso, Ibane Abasolo

    Baskı/Yayın Bilgisi 2025
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  6. 6
    Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS)

    Impact of Measures to Enhance the Value of Observational Surveys in Rare Diseases: The Fabry Outcome Survey (FOS) Yazar: Joe T.R. Clarke, Roberto Giugliani, Gere Sunder‐Plassmann, Perry Elliott, Guillem Pintos‐Morell, Elizabeth Hernberg‐Ståhl, Maria Malmenäs, Michael Beck

    Baskı/Yayın Bilgisi 2011
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  7. 7
    Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

    Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis Yazar: Michael Beck, Derralynn Hughes, Christoph Kampmann, Sylvain Larroque, Atul Mehta, Guillem Pintos‐Morell, Uma Ramaswami, Michael L. West, Anna Wijatyk, Roberto Giugliani

    Baskı/Yayın Bilgisi 2015
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  8. 8
    Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

    Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis Yazar: Michael Beck, Derralynn Hughes, Christoph Kampmann, Sylvain Larroque, Atul Mehta, Guillem Pintos‐Morell, Uma Ramaswami, Michael L. West, Anna Wijatyk, Roberto Giugliani

    Baskı/Yayın Bilgisi 2015
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  9. 9
    <p>Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis</p>

    <p>Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis</p> Yazar: Uma Ramaswami, Michael Beck, Derralynn Hughes, Christoph Kampmann, Jaco Botha, Guillem Pintos‐Morell, Michael L. West, Dau‐Ming Niu, Kathy Nicholls, Roberto Giugliani

    Baskı/Yayın Bilgisi 2019
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  10. 10
    A 15-Year Perspective of the Fabry Outcome Survey

    A 15-Year Perspective of the Fabry Outcome Survey Yazar: Roberto Giugliani, Dau‐Ming Niu, Uma Ramaswami, Michael L. West, Derralynn Hughes, Christoph Kampmann, Guillem Pintos‐Morell, Kathy Nicholls, Jörn-Magnus Schenk, Michael Beck

    Baskı/Yayın Bilgisi 2016
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  11. 11
    Recommendations for the management of tyrosinaemia type 1

    Recommendations for the management of tyrosinaemia type 1 Yazar: Corinne De Laet, Carlo Dionisi‐Vici, James V. Leonard, Patrick McKiernan, Grant A. Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos‐Morell, Ute Spiekerkötter

    Baskı/Yayın Bilgisi 2013
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  12. 12
    Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature

    Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature Yazar: Olivier Lidove, Michael L. West, Guillem Pintos‐Morell, Ricardo Reisin, Kathy Nicholls, Luis E. Figuera, Rossella Parini, Luiz Roberto Carvalho, Christoph Kampmann, Gregory M. Pastores, Atul Mehta

    Baskı/Yayın Bilgisi 2010
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  13. 13
    Therapeutic goals in the treatment of Fabry disease

    Therapeutic goals in the treatment of Fabry disease Yazar: Atul Mehta, Michael L. West, Guillem Pintos‐Morell, Ricardo Reisin, Kathy Nicholls, Luis E. Figuera, Rossella Parini, Luiz Roberto Carvalho, Christoph Kampmann, Gregory M. Pastores, Olivier Lidove

    Baskı/Yayın Bilgisi 2010
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  14. 14
    Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys

    Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys Yazar: Shoshana Revel‐Vilk, Uma Ramaswami, Guillem Pintos‐Morell, Derralynn Hughes, Kathy Nicholls, Ricardo Reisin, Roberto Giugliani, Özlem Göker-Alpan, Majdolen Istaiti, Aidan Gill, Maurizio Scarpa, Jaco Botha

    Baskı/Yayın Bilgisi 2025
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  15. 15
    Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee

    Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee Yazar: David R. Adams, Clara D. van Karnebeek, Sergi Beltrán, Víctor Faúndes, Saumya Shekhar Jamuar, Sally Ann Lynch, Guillem Pintos‐Morell, Ratna Dua Puri, Ruty Mehrian‐Shai, Charles A. Steward, Birutė Tumienė, Alain Verloès

    Baskı/Yayın Bilgisi 2024
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  16. 16
    Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

    Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry Yazar: Michael Beck, Uma Ramaswami, Elizabeth Hernberg‐Ståhl, Derralynn Hughes, Christoph Kampmann, Atul Mehta, Kathy Nicholls, Dau‐Ming Niu, Guillem Pintos‐Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani

    Baskı/Yayın Bilgisi 2022
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  17. 17
    Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

    Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome Yazar: Alejandro García‐Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, A. Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, M. Espino Hernández, Zilac Espitaletta, Víctor Manuel García Nieto, David Barajas de Frutos, Reyner Loza Munárriz, Guillem Pintos‐Morell, Luís Castaño, Gema Ariceta

    Baskı/Yayın Bilgisi 2017
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  18. 18
    Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

    Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update Yazar: Alfredo Santalla, Gisela Nogales‐Gadea, Alberto Blázquez, Irene Viéitez, Adrián González-Quintana, Pablo Serrano‐Lorenzo, Inés García Consuegra, Sara Marcos Asensio, Alfonsina Ballester‐Lopez, Guillem Pintos‐Morell, J Coll, Helios Pareja‐Galeano, Jorge Díez‐Bermejo, Margarita Pérez, Antoni L. Andreu, Tomàs Pinós, Joaquı́n Arenas, Miguel A. Martı́n, Alejandro Lucía

    Baskı/Yayın Bilgisi 2017
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  19. 19
    Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders

    Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders Yazar: Joaquin Seras‐Franzoso, Zamira V. Díaz‐Riascos, José Luís Corchero, Patricia González, Natalia García‐Aranda, Mònica Mandaña, Roger Riera, Ana Boullosa, Sandra Mancilla, Alba Grayston, Marc Moltó‐Abad, Elena García‐Fruitós, Rosa Mendoza, Guillem Pintos‐Morell, Lorenzo Albertazzi, Anna Rosell, Josefina Casas, Antonio Villaverde, Simó Schwartz, Ibane Abasolo

    Baskı/Yayın Bilgisi 2021
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  20. 20
    Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

    Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis Yazar: Sheila Santín, Rafael García‐Maset, Patricia Ruíz, Isabel Giménez, I. Zamora, Antonia Peña, A. Madrid, Juan Antonio Camacho, Gloria Fraga, Ana Sánchez‐Moreno, María Ángeles Cobo, Carmen Bernis, Alberto Ortíz, Augusto Luque de Pablos, Guillem Pintos‐Morell, Maria Luisa Justa, Emilia Hidalgo-Barquero, Patricia Fernández‐Llama, José Ballarín, Elisabet Ars, Roser Torrá, on behalf of the FSGS Spanish Study Group

    Baskı/Yayın Bilgisi 2009
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